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Links from MedGen

Items: 1 to 100 of 252

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr12:48389548
GRCh38:
Chr12:47995765
COL2A1Stickler syndrome type 1Pathogenicno assertion criteria provided
2.
GRCh37:
Chr12:48379750
GRCh38:
Chr12:47985967
COL2A1Stickler syndrome type 1Pathogenic
(Feb 2, 2023)		criteria provided, single submitter
3.
GRCh37:
Chr12:48390365
GRCh38:
Chr12:47996582
COL2A1G123fs, G192fsStickler syndrome type 1Likely pathogeniccriteria provided, single submitter
4.
GRCh37:
Chr12:48370666-48370667
GRCh38:
Chr12:47976883-47976884
COL2A1G1053fs, G1122fsStickler syndrome type 1Pathogenic
(Dec 1, 2022)		criteria provided, single submitter
5.
GRCh37:
Chr12:48378723-48378809
GRCh38:
Chr12:47984940-47985026
COL2A1Stickler syndrome type 1Pathogeniccriteria provided, single submitter
6.
GRCh37:
Chr12:48387770-48387772
GRCh38:
Chr12:47993987-47993989
COL2A1Stickler syndrome type 1Likely pathogeniccriteria provided, single submitter
7.
GRCh37:
Chr12:48376643-48376651
GRCh38:
Chr12:47982860-47982868
COL2A1Stickler syndrome type 1Likely pathogeniccriteria provided, single submitter
8.
GRCh37:
Chr12:48389540
GRCh38:
Chr12:47995757
COL2A1Q152*, Q221*not provided, Stickler syndrome type 1Conflicting interpretations of pathogenicity
(Sep 8, 2022)		criteria provided, conflicting interpretations
9.
GRCh37:
Chr12:48374335
GRCh38:
Chr12:47980552
COL2A1Stickler syndrome type 1Likely pathogenic
(Sep 2, 2022)		criteria provided, single submitter
10.
GRCh37:
Chr12:48381060
GRCh38:
Chr12:47987277
COL2A1G351*, G420*Stickler syndrome type 1Pathogenic
(May 26, 2020)		criteria provided, single submitter
11.
GRCh37:
Chr12:48391408
GRCh38:
Chr12:47997625
COL2A1G102fs, G171fsStickler syndrome type 1Pathogenic
(May 26, 2020)		criteria provided, single submitter
12.
GRCh37:
Chr12:48387286
GRCh38:
Chr12:47993503
COL2A1Stickler syndrome type 1Pathogenic
(Feb 2, 2022)		criteria provided, single submitter
13.
GRCh37:
Chr12:48372157
GRCh38:
Chr12:47978374
COL2A1Q905fs, Q974fsStickler syndrome type 1Pathogenic
(Feb 2, 2022)		criteria provided, single submitter
14.
GRCh37:
Chr12:48380641
GRCh38:
Chr12:47986858
COL2A1E397*, E466*Stickler syndrome type 1Pathogenic
(Feb 2, 2022)		criteria provided, single submitter
15.
GRCh37:
Chr12:48392216
GRCh38:
Chr12:47998433
COL2A1Stickler syndrome type 1Likely pathogenic
(May 2, 2022)		no assertion criteria provided
16.
GRCh37:
Chr12:48383548
GRCh38:
Chr12:47989765
COL2A1P286fs, P355fsStickler syndrome type 1Likely pathogenic
(Jan 21, 2022)		criteria provided, single submitter
17.
GRCh37:
Chr12:48391695
GRCh38:
Chr12:47997912
COL2A1E130*, E61*Stickler syndrome type 1Likely pathogenic
(Sep 6, 2021)		criteria provided, single submitter
18.
GRCh37:
Chr12:48391652
GRCh38:
Chr12:47997869
COL2A1Stickler syndrome type 1Likely pathogenic
(Aug 6, 2021)		criteria provided, single submitter
19.
GRCh37:
Chr12:48377495
GRCh38:
Chr12:47983712
COL2A1Q587*, Q656*Stickler syndrome type 1Likely pathogenic
(Oct 15, 2021)		criteria provided, single submitter
20.
GRCh37:
Chr12:48370588-48370591
GRCh38:
Chr12:47976805-47976808
COL2A1not provided, Stickler syndrome type 1, Marfan syndrome
Conflicting interpretations of pathogenicity
(Jun 10, 2022)		criteria provided, conflicting interpretations
21.
GRCh37:
Chr12:48372379
GRCh38:
Chr12:47978596
COL2A1Stickler syndrome type 1Pathogenic
(Jul 1, 2022)		criteria provided, single submitter
22.
GRCh37:
Chr12:48368104
GRCh38:
Chr12:47974321
COL2A1G1293fs, G1362fsStickler syndrome type 1Pathogeniccriteria provided, single submitter
23.
GRCh37:
Chr12:48389704
GRCh38:
Chr12:47995921
COL2A1Stickler syndrome type 1Likely pathogenic
(Sep 1, 2022)		criteria provided, single submitter
24.
GRCh37:
Chr12:48390371
GRCh38:
Chr12:47996588
COL2A1K121fs, K190fsStickler syndrome type 1Pathogenic
(Jun 24, 2022)		criteria provided, single submitter
25.
GRCh37:
Chr12:48375581-48375599
GRCh38:
Chr12:47981798-47981816
COL2A1P721fs, P790fsStickler syndrome type 1Likely pathogenic
(May 22, 2022)		criteria provided, single submitter
26.
GRCh37:
Chr12:48389063
GRCh38:
Chr12:47995280
COL2A1G177V, G246VStickler syndrome type 1Pathogenic
(May 4, 2022)		criteria provided, single submitter
27.
GRCh37:
Chr12:48380154
GRCh38:
Chr12:47986371
COL2A1G429R, G498RStickler syndrome type 1Pathogenic
(May 4, 2022)		criteria provided, single submitter
28.
GRCh37:
Chr12:48368018
GRCh38:
Chr12:47974235
COL2A1Y1322H, Y1391HStickler syndrome type 1Pathogenic
(May 4, 2022)		criteria provided, single submitter
29.
GRCh37:
Chr12:48380162
GRCh38:
Chr12:47986379
COL2A1G426E, G495EStickler syndrome type 1Likely pathogenic
(May 4, 2022)		criteria provided, single submitter
30.
GRCh37:
Chr12:48379545
GRCh38:
Chr12:47985762
COL2A1G480D, G549DStickler syndrome type 1Likely pathogenic
(May 4, 2022)		criteria provided, single submitter
31.
GRCh37:
Chr12:48379516-48379533
GRCh38:
Chr12:47985733-47985750
COL2A1Stickler syndrome type 1Likely pathogenic
(May 4, 2022)		criteria provided, single submitter
32.
GRCh37:
Chr12:48374443
GRCh38:
Chr12:47980660
COL2A1G771D, G840DStickler syndrome type 1Likely pathogenic
(May 4, 2022)		criteria provided, single submitter
33.
GRCh37:
Chr12:48370633
GRCh38:
Chr12:47976850
COL2A1R1064C, R1133Cnot provided, Spondyloepiphyseal dysplasia congenitaConflicting interpretations of pathogenicity
(Jul 1, 2022)		criteria provided, conflicting interpretations
34.
GRCh37:
Chr12:48371788
GRCh38:
Chr12:47978005
COL2A1not provided, Spondyloepiphyseal dysplasia, Stanescu type, Stickler syndrome type 1,
Spondyloepimetaphyseal dysplasia, Strudwick type, Spondyloperipheral dysplasia, Legg-Calve-Perthes disease,
Kniest dysplasia, Multiple epiphyseal dysplasia, Beighton type, Czech dysplasia, metatarsal type,
Spondyloepiphyseal dysplasia congenita, Vitreoretinopathy with phalangeal epiphyseal dysplasiaSpondylometaphyseal dysplasia - Sutcliffe type,
Achondrogenesis type II, Stickler syndrome, type I, nonsyndromic ocular, Platyspondylic dysplasia, Torrance type,
Namaqualand hip dysplasia, Avascular necrosis of femoral head, primary, 1, ...see more		Uncertain significance
(Jun 13, 2022)		criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr12:48372559
GRCh38:
Chr12:47978776
COL2A1not provided, Kniest dysplasia, Legg-Calve-Perthes disease,
Czech dysplasia, metatarsal type, Spondyloepiphyseal dysplasia, Stanescu type, Multiple epiphyseal dysplasia, Beighton type,
Spondyloepiphyseal dysplasia congenita, Spondylometaphyseal dysplasia - Sutcliffe type, Stickler syndrome, type I, nonsyndromic ocular,
Achondrogenesis type II, Avascular necrosis of femoral head, primary, 1Stickler syndrome type 1,
Spondyloepimetaphyseal dysplasia, Strudwick type, Spondyloperipheral dysplasia, Vitreoretinopathy with phalangeal epiphyseal dysplasia,
Platyspondylic dysplasia, Torrance type, Namaqualand hip dysplasia, ...see more		Likely benign
(Aug 31, 2022)		criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr12:48372480
GRCh38:
Chr12:47978697
COL2A1R863Q, R932Qnot provided, Stickler syndrome, type I, nonsyndromic ocular, Achondrogenesis type II,
Legg-Calve-Perthes disease, Kniest dysplasia, Stickler syndrome type 1,
Spondyloepimetaphyseal dysplasia, Strudwick type, Spondyloperipheral dysplasia, Spondyloepiphyseal dysplasia, Stanescu type,
Multiple epiphyseal dysplasia, Beighton type, Czech dysplasia, metatarsal typeNamaqualand hip dysplasia,
Vitreoretinopathy with phalangeal epiphyseal dysplasia, Platyspondylic dysplasia, Torrance type, Avascular necrosis of femoral head, primary, 1,
Spondyloepiphyseal dysplasia congenita, Spondylometaphyseal dysplasia - Sutcliffe type, ...see more		Conflicting interpretations of pathogenicity
(Sep 9, 2022)		criteria provided, conflicting interpretations
37.
GRCh37:
Chr12:48374353
GRCh38:
Chr12:47980570
COL2A1G801E, G870Enot provided, Stickler syndrome type 1Pathogenic/Likely pathogenic
(Jul 12, 2022)		criteria provided, multiple submitters, no conflicts
38.
GRCh37:
Chr12:48372417
GRCh38:
Chr12:47978634
COL2A1P884fs, P953fsnot provided, Namaqualand hip dysplasia, Czech dysplasia, metatarsal type,
Spondyloepimetaphyseal dysplasia, Strudwick type, Spondyloperipheral dysplasia, Legg-Calve-Perthes disease,
Kniest dysplasia, Achondrogenesis type II, Avascular necrosis of femoral head, primary, 1,
Multiple epiphyseal dysplasia, Beighton type, Spondyloepiphyseal dysplasia, Stanescu typeStickler syndrome type 1,
Spondyloepiphyseal dysplasia congenita, Spondylometaphyseal dysplasia - Sutcliffe type, Stickler syndrome, type I, nonsyndromic ocular,
Vitreoretinopathy with phalangeal epiphyseal dysplasia, Platyspondylic dysplasia, Torrance type, ...see more		Pathogenic
(Jan 4, 2022)		criteria provided, multiple submitters, no conflicts
39.
GRCh37:
Chr12:48376367
GRCh38:
Chr12:47982584
COL2A1P740fs, P671fsnot provided, Stickler syndrome type 1Pathogenic
(Jul 19, 2022)		criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr12:48380133
GRCh38:
Chr12:47986350
COL2A1P505S, P436Snot provided, Spondyloepiphyseal dysplasia congenita, Stickler syndrome type 1
Conflicting interpretations of pathogenicity
(Nov 27, 2023)		criteria provided, conflicting interpretations
41.
GRCh37:
Chr12:48378854
GRCh38:
Chr12:47985071
COL2A1R586H, R517Hnot provided, Legg-Calve-Perthes disease, Spondyloepiphyseal dysplasia congenita,
Spondylometaphyseal dysplasia - Sutcliffe type, Stickler syndrome, type I, nonsyndromic ocular, Kniest dysplasia,
Achondrogenesis type II, Avascular necrosis of femoral head, primary, 1, Multiple epiphyseal dysplasia, Beighton type,
Spondyloepiphyseal dysplasia, Stanescu type, Spondyloperipheral dysplasiaStickler syndrome type 1,
Spondyloepimetaphyseal dysplasia, Strudwick type, Czech dysplasia, metatarsal type, Vitreoretinopathy with phalangeal epiphyseal dysplasia,
Platyspondylic dysplasia, Torrance type, Namaqualand hip dysplasia, ...see more		Conflicting interpretations of pathogenicity
(Jul 19, 2022)		criteria provided, conflicting interpretations
42.
GRCh37:
Chr12:48374336
GRCh38:
Chr12:47980553
COL2A1Stickler syndrome type 1Likely pathogenic
(Dec 29, 2021)		criteria provided, single submitter
43.
GRCh37:
Chr12:48370932
GRCh38:
Chr12:47977149
COL2A1Q1025*, Q1094*Stickler syndrome type 1, not providedPathogenic
(Jun 6, 2022)		criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr12:48373308
GRCh38:
Chr12:47979525
COL2A1P838S, P907SStickler syndrome type 1Uncertain significance
(Nov 20, 2019)		criteria provided, single submitter
45.
GRCh37:
Chr12:48368457
GRCh38:
Chr12:47974674
COL2A1not provided, Stickler syndrome type 1Pathogenic
(Jan 15, 2023)		criteria provided, multiple submitters, no conflicts
46.
GRCh37:
Chr12:48367871
GRCh38:
Chr12:47974088
COL2A1Stickler syndrome type 1Pathogenic
(Feb 18, 2021)		criteria provided, single submitter
47.
GRCh37:
Chr12:48389653-48389654
GRCh38:
Chr12:47995870-47995871
COL2A1Stickler syndrome type 1Likely pathogenic
(Aug 27, 2021)		criteria provided, single submitter
48.
GRCh37:
Chr12:48378328
GRCh38:
Chr12:47984545
COL2A1Stickler syndrome type 1Pathogenic
(Jul 29, 2021)		criteria provided, single submitter
49.
GRCh37:
Chr12:48383543-48383544
GRCh38:
Chr12:47989760-47989761
COL2A1G288fs, G357fsStickler syndrome type 1Likely pathogenic
(Aug 10, 2021)		criteria provided, single submitter
50.
GRCh37:
Chr12:48368636
GRCh38:
Chr12:47974853
COL2A1W1230*, W1299*Stickler syndrome type 1, COL2A1-related condition, not provided
Pathogenic
(Oct 10, 2023)		criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr12:48379512
GRCh38:
Chr12:47985729
COL2A1R491P, R560Pnot providedUncertain significance
(Oct 17, 2022)		criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr12:48374368
GRCh38:
Chr12:47980585
COL2A1P796fs, P865fsStickler syndrome type 1Likely pathogenic
(Aug 9, 2021)		criteria provided, single submitter
53.
GRCh37:
Chr12:48378785
GRCh38:
Chr12:47985002
COL2A1G540V, G609Vnot provided, Stickler syndrome type 1Likely pathogenic
(Jun 27, 2022)		criteria provided, multiple submitters, no conflicts
54.
GRCh37:
Chr12:48374751
GRCh38:
Chr12:47980968
COL2A1G753S, G822SStickler syndrome type 1Likely pathogenic
(Jul 16, 2021)		criteria provided, single submitter
55.
GRCh37:
Chr12:48372510-48372518
GRCh38:
Chr12:47978727-47978735
COL2A1not providedLikely pathogenic
(Jul 12, 2022)		criteria provided, single submitter
56.
GRCh37:
Chr12:48389695-48389719
GRCh38:
Chr12:47995912-47995936
COL2A1not provided, Stickler syndrome type 1Pathogenic/Likely pathogenic
(Mar 21, 2022)		criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr12:48371103-48371106
GRCh38:
Chr12:47977320-47977323
COL2A1E1021fs, E1090fsStickler syndrome type 1Pathogenic
(May 21, 2021)		criteria provided, single submitter
58.
GRCh37:
Chr12:48393847
GRCh38:
Chr12:48000064
COL2A1not provided, Stickler syndrome type 1Benign/Likely benign
(Jul 1, 2022)		criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr12:48367935
GRCh38:
Chr12:47974152
COL2A1not provided, Legg-Calve-Perthes disease, Kniest dysplasia,
Spondyloepiphyseal dysplasia congenita, Stickler syndrome, type I, nonsyndromic ocular, Spondylometaphyseal dysplasia - Sutcliffe type,
Achondrogenesis type II, Vitreoretinopathy with phalangeal epiphyseal dysplasia, Spondyloepiphyseal dysplasia, Stanescu type,
Avascular necrosis of femoral head, primary, 1, Platyspondylic dysplasia, Torrance typeNamaqualand hip dysplasia,
Czech dysplasia, metatarsal type, Multiple epiphyseal dysplasia, Beighton type, Spondyloepimetaphyseal dysplasia, Strudwick type,
Stickler syndrome type 1, Spondyloperipheral dysplasia, ...see more		Likely benign
(Jan 28, 2022)		criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr12:48367235
GRCh38:
Chr12:47973452
COL2A1Kniest dysplasia, Achondrogenesis type II, Namaqualand hip dysplasia,
Spondyloperipheral dysplasia, Legg-Calve-Perthes disease, Avascular necrosis of femoral head, primary, 1,
Spondyloepiphyseal dysplasia, Stanescu type, Stickler syndrome type 1, Platyspondylic dysplasia, Torrance type,
Spondyloepimetaphyseal dysplasia, Strudwick type, Multiple epiphyseal dysplasia, Beighton typeCzech dysplasia, metatarsal type,
Vitreoretinopathy with phalangeal epiphyseal dysplasia, Spondyloepiphyseal dysplasia congenita, Spondylometaphyseal dysplasia - Sutcliffe type,
Stickler syndrome, type I, nonsyndromic ocular, not provided, ...see more		Likely benign
(Jun 27, 2022)		criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr12:48372389
GRCh38:
Chr12:47978606
COL2A1not provided, Kniest dysplasia, Achondrogenesis type II,
Namaqualand hip dysplasia, Spondyloperipheral dysplasia, Legg-Calve-Perthes disease,
Avascular necrosis of femoral head, primary, 1, Spondyloepiphyseal dysplasia, Stanescu type, Stickler syndrome type 1,
Platyspondylic dysplasia, Torrance type, Spondyloepimetaphyseal dysplasia, Strudwick typeMultiple epiphyseal dysplasia, Beighton type,
Czech dysplasia, metatarsal type, Vitreoretinopathy with phalangeal epiphyseal dysplasia, Spondyloepiphyseal dysplasia congenita,
Spondylometaphyseal dysplasia - Sutcliffe type, Stickler syndrome, type I, nonsyndromic ocular, ...see more		Likely benign
(Aug 8, 2022)		criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr12:48368518
GRCh38:
Chr12:47974735
COL2A1Kniest dysplasia, Achondrogenesis type II, Namaqualand hip dysplasia,
Spondyloperipheral dysplasia, Legg-Calve-Perthes disease, Avascular necrosis of femoral head, primary, 1,
Spondyloepiphyseal dysplasia, Stanescu type, Stickler syndrome type 1, Platyspondylic dysplasia, Torrance type,
Spondyloepimetaphyseal dysplasia, Strudwick type, Multiple epiphyseal dysplasia, Beighton typeCzech dysplasia, metatarsal type,
Vitreoretinopathy with phalangeal epiphyseal dysplasia, Spondyloepiphyseal dysplasia congenita, Spondylometaphyseal dysplasia - Sutcliffe type,
Stickler syndrome, type I, nonsyndromic ocular, not provided, ...see more		Likely benign
(May 29, 2022)		criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr12:48369853
GRCh38:
Chr12:47976070
COL2A1G1095S, G1164Snot provided, Stickler syndrome type 1Pathogenic
(Oct 28, 2022)		criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr12:48372469
GRCh38:
Chr12:47978686
COL2A1G867S, G936SStickler syndrome type 1, not providedConflicting interpretations of pathogenicity
(Aug 24, 2022)		criteria provided, conflicting interpretations
65.
GRCh37:
Chr12:48376920
GRCh38:
Chr12:47983137
COL2A1G615C, G684Cnot provided, Stickler syndrome type 1Uncertain significance
(Sep 3, 2022)		criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr12:48371897
GRCh38:
Chr12:47978114
COL2A1E1003K, E934Knot provided, Achondrogenesis type II, Avascular necrosis of femoral head, primary, 1,
Czech dysplasia, metatarsal type, Platyspondylic dysplasia, Torrance type, Spondylometaphyseal dysplasia - Sutcliffe type,
Vitreoretinopathy with phalangeal epiphyseal dysplasia, Multiple epiphyseal dysplasia, Beighton type, Namaqualand hip dysplasia,
Stickler syndrome, type I, nonsyndromic ocular, Spondyloperipheral dysplasiaStickler syndrome type 1,
Legg-Calve-Perthes disease, Kniest dysplasia, Spondyloepimetaphyseal dysplasia, Strudwick type,
Spondyloepiphyseal dysplasia congenita, Spondyloepiphyseal dysplasia, Stanescu type, ...see more		Uncertain significance
(Sep 15, 2022)		criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr12:48383555
GRCh38:
Chr12:47989772
COL2A1A284T, A353Tnot provided, Achondrogenesis type II, Avascular necrosis of femoral head, primary, 1,
Czech dysplasia, metatarsal type, Platyspondylic dysplasia, Torrance type, Spondylometaphyseal dysplasia - Sutcliffe type,
Vitreoretinopathy with phalangeal epiphyseal dysplasia, Multiple epiphyseal dysplasia, Beighton type, Namaqualand hip dysplasia,
Stickler syndrome, type I, nonsyndromic ocular, Spondyloperipheral dysplasiaStickler syndrome type 1,
Legg-Calve-Perthes disease, Kniest dysplasia, Spondyloepimetaphyseal dysplasia, Strudwick type,
Spondyloepiphyseal dysplasia congenita, Spondyloepiphyseal dysplasia, Stanescu type, ...see more		Conflicting interpretations of pathogenicity
(Aug 24, 2022)		criteria provided, conflicting interpretations
68.
GRCh37:
Chr12:48372413
GRCh38:
Chr12:47978630
COL2A1Stickler syndrome type 1, not providedPathogenic/Likely pathogenic
(Jun 1, 2023)		criteria provided, multiple submitters, no conflicts
69.
GRCh37:
Chr12:48371294-48371381
GRCh38:
Chr12:47977511-47977598
COL2A1Stickler syndrome type 1Likely pathogenic
(Oct 20, 2020)		criteria provided, single submitter
70.
GRCh37:
Chr12:48373792-48373793
GRCh38:
Chr12:47980009-47980010
COL2A1A826fs, A895fsStickler syndrome type 1, not providedPathogenic
(Jul 6, 2022)		criteria provided, multiple submitters, no conflicts
71.
GRCh37:
Chr12:48369284
GRCh38:
Chr12:47975501
COL2A1D1165E, D1234Enot provided, Stickler syndrome type 1Uncertain significance
(Apr 18, 2022)		criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr12:48378361
GRCh38:
Chr12:47984578
COL2A1E619K, E550Knot provided, Achondrogenesis type II, Legg-Calve-Perthes disease,
Kniest dysplasia, Czech dysplasia, metatarsal type, Spondyloepimetaphyseal dysplasia, Strudwick type,
Avascular necrosis of femoral head, primary, 1, Stickler syndrome, type I, nonsyndromic ocular, Multiple epiphyseal dysplasia, Beighton type,
Namaqualand hip dysplasia, Spondyloperipheral dysplasiaStickler syndrome type 1,
Platyspondylic dysplasia, Torrance type, Spondyloepiphyseal dysplasia, Stanescu type, Spondylometaphyseal dysplasia - Sutcliffe type,
Spondyloepiphyseal dysplasia congenita, Vitreoretinopathy with phalangeal epiphyseal dysplasia, ...see more		Conflicting interpretations of pathogenicity
(Nov 1, 2022)		criteria provided, conflicting interpretations
73.
GRCh37:
Chr12:48389089
GRCh38:
Chr12:47995306
COL2A1Stickler syndrome type 1, not provided, Type II Collagenopathies
Conflicting interpretations of pathogenicity
(Sep 10, 2022)		criteria provided, conflicting interpretations
74.
GRCh37:
Chr12:48388245
GRCh38:
Chr12:47994462
COL2A1P191S, P260SStickler syndrome type 1, Type II CollagenopathiesUncertain significance
(Jan 13, 2018)		criteria provided, single submitter
75.
GRCh37:
Chr12:48369323
GRCh38:
Chr12:47975540
COL2A1Type II Collagenopathies, Stickler syndrome type 1, not provided
Conflicting interpretations of pathogenicity
(Sep 27, 2022)		criteria provided, conflicting interpretations
76.
GRCh37:
Chr12:48369273
GRCh38:
Chr12:47975490
COL2A1Y1238S, Y1169SConnective tissue disorder, Type II Collagenopathies, Stickler syndrome type 1,
not provided		Conflicting interpretations of pathogenicity
(Oct 5, 2022)		criteria provided, conflicting interpretations
77.
GRCh37:
Chr12:48366859
GRCh38:
Chr12:47973076
COL2A1Stickler syndrome type 1, Type II CollagenopathiesUncertain significance
(Mar 2, 2018)		criteria provided, single submitter
78.
GRCh37:
Chr12:48366817
GRCh38:
Chr12:47973034
COL2A1Stickler syndrome type 1, Type II CollagenopathiesUncertain significance
(Mar 30, 2018)		criteria provided, single submitter
79.
GRCh37:
Chr12:48391409
GRCh38:
Chr12:47997626
COL2A1G102R, G171RType II Collagenopathies, Stickler syndrome type 1Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
80.
GRCh37:
Chr12:48387578
GRCh38:
Chr12:47993795
COL2A1Type II Collagenopathies, Stickler syndrome type 1Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
81.
GRCh37:
Chr12:48375192
GRCh38:
Chr12:47981409
COL2A1Type II Collagenopathies, Stickler syndrome type 1, not provided
Conflicting interpretations of pathogenicity
(Oct 26, 2022)		criteria provided, conflicting interpretations
82.
GRCh37:
Chr12:48367863
GRCh38:
Chr12:47974080
COL2A1Type II Collagenopathies, Stickler syndrome type 1Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
83.
GRCh37:
Chr12:48367304
GRCh38:
Chr12:47973521
COL2A1Type II Collagenopathies, Stickler syndrome type 1, not provided
Conflicting interpretations of pathogenicity
(Oct 19, 2022)		criteria provided, conflicting interpretations
84.
GRCh37:
Chr12:48391408
GRCh38:
Chr12:47997625
COL2A1G102V, G171VType II Collagenopathies, Stickler syndrome type 1, Inborn genetic diseases
Uncertain significance
(May 4, 2022)		criteria provided, multiple submitters, no conflicts
85.
GRCh37:
Chr12:48381477
GRCh38:
Chr12:47987694
COL2A1T380A, T311AType II Collagenopathies, Stickler syndrome type 1Conflicting interpretations of pathogenicity
(Apr 28, 2017)		criteria provided, conflicting interpretations
86.
GRCh37:
Chr12:48377461
GRCh38:
Chr12:47983678
COL2A1Type II Collagenopathies, Stickler syndrome type 1Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
87.
GRCh37:
Chr12:48373838
GRCh38:
Chr12:47980055
COL2A1T878I, T809IType II Collagenopathies, Stickler syndrome type 1Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
88.
GRCh37:
Chr12:48370904
GRCh38:
Chr12:47977121
COL2A1A1034G, A1103GType II Collagenopathies, Stickler syndrome type 1, Inborn genetic diseases,
not provided		Conflicting interpretations of pathogenicity
(Oct 13, 2022)		criteria provided, conflicting interpretations
89.
GRCh37:
Chr12:48368446
GRCh38:
Chr12:47974663
COL2A1not provided, Type II Collagenopathies, Stickler syndrome type 1
Conflicting interpretations of pathogenicity
(Oct 19, 2022)		criteria provided, conflicting interpretations
90.
GRCh37:
Chr12:48367206
GRCh38:
Chr12:47973423
COL2A1P1483L, P1414LType II Collagenopathies, Stickler syndrome type 1, not provided
Conflicting interpretations of pathogenicity
(Jul 10, 2019)		criteria provided, conflicting interpretations
91.
GRCh37:
Chr12:48389479
GRCh38:
Chr12:47995696
COL2A1not provided, Type II Collagenopathies, Stickler syndrome type 1
Conflicting interpretations of pathogenicity
(Jul 26, 2022)		criteria provided, conflicting interpretations
92.
GRCh37:
Chr12:48372470
GRCh38:
Chr12:47978687
COL2A1not provided, Type II Collagenopathies, Stickler syndrome type 1
Conflicting interpretations of pathogenicity
(Mar 3, 2022)		criteria provided, conflicting interpretations
93.
GRCh37:
Chr12:48369838
GRCh38:
Chr12:47976055
COL2A1V1100I, V1169Inot provided, Type II Collagenopathies, Stickler syndrome type 1
Conflicting interpretations of pathogenicity
(Oct 13, 2022)		criteria provided, conflicting interpretations
94.
GRCh37:
Chr12:48368096
GRCh38:
Chr12:47974313
COL2A1N1365Y, N1296Ynot provided, Type II Collagenopathies, Stickler syndrome type 1
Conflicting interpretations of pathogenicity
(Sep 1, 2021)		criteria provided, conflicting interpretations
95.
GRCh37:
Chr12:48378777
GRCh38:
Chr12:47984994
COL2A1not provided, Stickler syndrome type 1, Retinal dystrophy
Pathogenic
(Oct 17, 2022)		criteria provided, multiple submitters, no conflicts
96.
GRCh37:
Chr12:48372168
GRCh38:
Chr12:47978385
COL2A1P970L, P901LConnective tissue disorder, not provided, Type II Collagenopathies,
Stickler syndrome type 1		Conflicting interpretations of pathogenicity
(Jul 25, 2022)		criteria provided, conflicting interpretations
97.
GRCh37:
Chr12:48373812
GRCh38:
Chr12:47980029
COL2A1R887*, R818*Stickler syndrome type 1, not providedPathogenic/Likely pathogenic
(Sep 24, 2022)		criteria provided, multiple submitters, no conflicts
98.
GRCh37:
Chr12:48391428-48391429
GRCh38:
Chr12:47997645-47997646
COL2A1G165fs, G96fsAchondrogenesis type II, Stickler syndrome type 1, not provided
Pathogenic/Likely pathogenic
(May 25, 2022)		criteria provided, multiple submitters, no conflicts
99.
GRCh37:
Chr12:48369389
GRCh38:
Chr12:47975606
COL2A1Stickler syndrome type 1Pathogenic
(Jan 17, 2020)		criteria provided, single submitter
100.
GRCh37:
Chr12:48377492
GRCh38:
Chr12:47983709
COL2A1G657S, G588SStickler syndrome type 1Likely pathogenic
(May 28, 2019)		criteria provided, single submitter
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